G75D (p.Gly75Asp) variant of SLC2A4 (P14672)
G75D (p.Gly75Asp) in SLC2A4 (P14672) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G75D (p.Gly75Asp) variant details
- p.Gly75Asp
- rs1326889234
- ClinGen CA397770744
- ClinVar RCV004277740
- gnomAD rs1326889234
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.37
- CADD 12.30
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available